Friday, May 29, 2015

Earlier this month I posted an article on CRISPR and asked if it would be the answer we are waiting for in the Kennedy's Disease and other rare disease communities. The opportunity for human gene editing has generated a lot of interest and questions concerning its use. Below are two comments concerning this potential breakthrough.

WASHINGTON -- The National Academy
of Sciences and the National Academy of Medicine are launching a major initiative
to guide decision making about controversial new research involving human gene
editing.Human gene-editing
technologies, such as CRISPR-Cas9, may lead to promising new treatments for
disease.However, recent experiments to
attempt to edit human genes also have raised important questions about the
potential risks and ethical concerns of altering the human germline.Future advances are likely to raise new
questions.

Our initiative will include an
international summit this fall to convene researchers and other experts to
explore the scientific, ethical, and policy issues associated with human
gene-editing research.In addition, we
will appoint a multidisciplinary, international committee to begin a comprehensive
study of the scientific underpinnings and clinical, ethical, legal, and social
implications of human gene editing.The
committee will consider and recommend standards, guidelines, and practices
governing the use of gene-editing technologies in biomedical research and
medicine.An advisory group to steer the
overall initiative will soon be announced.

We provided leadership in the past
on emerging, controversial new areas of genetic research, such as human
embryonic stem cell research, human cloning, and “gain-of-function”
research.In 1975, the Asilomar
conference convened by the National Academy of Sciences led to guidelines for
recombinant DNA research.In keeping
with these past efforts, we are prepared to work with the scientific and
medical communities to achieve a comprehensive understanding of human gene
editing and its implications in order to help guide researchers, clinicians,
policy makers, and the public, here and around the world.

Ralph J. Cicerone is the president
of the National Academy of Sciences, a private, nonprofit institution that
provides science policy advice to the nation under an 1863 congressional
charter. Victor J. Dzau is the president of the Institute of Medicine, which
was founded as the health arm of the NAS in 1970.Effective July 1, 2015, the IOM will become
the National Academy of Medicine, and Dzau will be its first president.

Genomic editing is an area of research
seeking to modify genes of living organisms to improve our understanding of
gene function and advance potential therapeutic applications to correct genetic
abnormalities. Researchers in China have recently described their experiments
in a nonviable human embryo to modify the gene responsible for a potentially
fatal blood disorder using a gene-editing technology called CRISPR/Cas9.

CRISPR-Cas9 is a customizable tool that
lets scientists cut and insert small pieces of DNA at precise areas along a DNA
strand. The tool is composed of two basic parts: the Cas9 protein, which acts
like the wrench, and the specific RNA guides, CRISPRs, which act as the set of
different socket heads. These guides direct the Cas9 protein to the correct
gene, or area on the DNA strand, that controls a particular trait. This lets
scientists study our genes in a specific, targeted way and in real-time.

Genomic editing is already widely
studied in a variety of organisms. For example, CRISPR/Cas9 has greatly
shortened the time it takes to produce knockout mouse models of disease,
enabling researchers to study more easily the underlying genetic causes of
those diseases. This technology is also being used to develop the next
generation of antimicrobials, which can specifically target harmful strains of
bacteria and viruses. In the first clinical application of genomic editing, a
related genome editing technique (using a zinc finger nuclease) was used to
create HIV-1 resistance in human immune cells, bringing HIV viral load down to
undetectable levels in at least one individual. All of these examples of
research using genomic editing technologies can and are being funded by NIH.

However, NIH will not fund any use of
gene-editing technologies in human embryos. The concept of altering the human
germline in embryos for clinical purposes has been debated over many years from
many different perspectives, and has been viewed almost universally as a line
that should not be crossed. Advances in technology have given us an elegant new
way of carrying out genome editing, but the strong arguments against engaging
in this activity remain. These include the serious and unquantifiable safety
issues, ethical issues presented by altering the germline in a way that affects
the next generation without their consent, and a current lack of compelling
medical applications justifying the use of CRISPR/Cas9 in embryos.

Practically, there are multiple
existing legislative and regulatory prohibitions against this kind of work. The
Dickey-Wicker amendment prohibits the use of appropriated funds for the
creation of human embryos for research purposes or for research in which human
embryos are destroyed (H.R. 2880, Sec. 128). Furthermore, the NIH Guidelines
state that the Recombinant DNA Advisory Committee, “…will not at
present entertain proposals for germ line alteration”. It is also important
to note the role of the U.S. Food and Drug Administration (FDA) in this arena,
which applies not only to federally funded research, but to any research in the
U.S. The Public Health Service Act and the Federal Food, Drug, and Cosmetic Act
give the FDA the authority to regulate cell and gene therapy products as biological
products and/or drugs, which would include oversight of human germline
modification. During development, biological products may be used in humans
only if an investigational new drug application is in effect (21 CFR Part 312).

NIH will continue to support a wide
range of innovations in biomedical research, but will do so in a fashion that
reflects well-established scientific and ethical principles.

Thursday, May 28, 2015

This month’s
newsletter from Humana had a good article for Caregivers. Some of these tips
are more relevant than others for those of us living with Kennedy’s Disease. As
a person with KD, I encourage my wife to become involved in other activities
that she enjoys. Sometimes, her just being away from me for a couple of hours makes
all the difference in the world. (Maybe there’s an underlining message here for
me - J )

__________

Six Tips to Avoid Caregiver Burnout

It is easy
to get burned out when you’re caring for a loved one. Here are some tips from
WebMD.com to lower your stress and recharge.

Take time for yourself every day. Try yoga before breakfast, slip out for a 20-minute walk, go
to the movies, or take time for a favorite hobby. Even a short break can help.

Get enough sleep. Most caregivers who say their own health has gotten worse blame loss of
sleep. Relaxation exercises, such as deep breathing, may help you at bedtime.
If a loved one sleeps during the day but ix awake much of the night, try to
take naps.

Join a support group. Look for support groups related to your loved one’s illness, if
possible. The local agency on aging may have a listing. Or consider joining an
online community.

Let animals assist. Spending time with a cat or dog can be soothing to people who are sick
or confined at home. Pets can lower blood pressure, reduce stress and even make
elderly people more alert.

Turn on some music. Music and art can spark fun shared moments for you and the person you’re
caring for. Familiar music can bring back memories and may lead to clapping and
dancing. Art projects should be simple and safe but not too childlike.

Use timers and reminders. Buy pillboxes that sound an alarm when it’s time for the
next dose. Try a smart phone app or an online medicine reminder. Pill organizers
are a low tech option.

Saturday, May 23, 2015

Below is a link to a short video update given by Dr. Fischbeck of the National Institutes of Health on Phase 2 of the clinical trial using a Novartis drug called BVS857. The trial is being held in several locations in the United States and Europe. Dr. Fischbeck uses the terms 'encouraging' and 'promising' in his comments on this study.

That is encouraging for me. :-)

"In this exclusive interview, Kenneth Fischbeck, MD, of the National
Institute of Neurological Disorders and Stroke (NINDS) talks about the
recent studies being conducted at the NINDS, in collaboration with
Novartis, to understand, and find a treatment for, Kennedy's disease
(spinal and bulbar muscular atrophy)."

Thursday, May 21, 2015

This is another important bill that everyone living with a rare disorder (including Kennedy's Disease) needs to follow.

NORD Issues Statement on Today’s Approval
of the 21st Century Cures Initiative

Washington, D.C. – May 21, 2015 – The
following statement was issued by
Peter L. Saltonstall, President and
CEO of NORD, on the approval by the
House Energy and Commerce Committee
of the 21st Century Cures legislative
initiative and the introduction of the OPEN Act in the United States Senate.

NORD congratulates the House Energy and Commerce Committee for unanimously approving the 21st
Century Cures initiative. As Chairman Fred Upton (R-MI) said, “This
historic day marks a big bipartisan step toward our path to cures.” Today also marks the introduction in the Senate of the OPEN Act, a bill that aims to greater incentivize orphan product development.

We look forward to working with the House as it considers the bill approved today by the Committee, and with the Senate as it continues its Medical Innovation Initiative and considers the OPEN Act.

The bill approved today contains provisions that are critically important for the rare disease community. It
also puts the patient at the center of drug approval, strengthens the
FDA’s ability to streamline clinical trials, reauthorizes a critical program for rare pediatric disease drug development, and further
incentivizes development of orphan products. We hope the
legislation, which includes sorely needed additional funding for the
National Institutes of Health and the Food and Drug Administration, will
foster an environment that is conducive to the development of new
therapies and improve patients’ access to them.

On behalf of the rare disease community, NORD thanks the Committee
for its months of collaboration, thoughtfulness and hard work. Today’s
vote underscores the bipartisan commitment to move this legislation
through the House and we hope the same spirit of collaboration leads to
prompt consideration by the Senate.

Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)

Saturday, May 16, 2015

MDA's Outreach Program sent out a message this week that needs to be passed along and supported by all those living with a neuromuscular disease (ALS, SBMA, SMA, etc.).

As many of you know, NIH is currently conducting a clinical trial for a treatment for Kennedy's Disease. If this phase goes well and the treatment is determined to be safe, NIH will move to the next phase and open the trial up to a larger group of patients.

Read the message from the MDA below and consider supporting the proposed increase to NIH spending.

Increased
funding for the National Institutes of Health (NIH) is critical to
finding treatments and cures for the neuromuscular diseases that affect
our community. Together, with our generous donors and sponsors, MDA is
working to fund groundbreaking research and bring critical support to
families. Collaboration-including leveraging federal funding-is vital to
speed urgently needed treatments to affected individuals as quickly as
possible.

Ensuring increased NIH funding is one of MDA's top policy priorities. Through targeted efforts
and strategic initiatives, MDA is urging Congress to boost funding for
NIH. Increased support for NIH is critical, as funding levels have
failed to keep up with the rising costs of medical research-resulting in
a 22% decrease in purchasing power since 2003, when adjusted for
inflation. This lack of funding has resulted in a lower grant
application success rate and hinders the ability of NIH to conduct and
support important biomedical research.

With
many voices carrying the message that medical research is imperative to
finding treatments and cures, lawmakers have placed increased NIH
funding on the Congressional agenda in both the Senate and the House of
Representatives.

Commerce Committee. This draft would
authorize an increase in NIH funding and would create an NIH Innovation
Fund that would increase NIH funding by $10 billion over five years.
MDA applauds the bipartisan efforts of the Energy & Commerce
Committee for making NIH funding a priority and appreciates the efforts
of Chairman Fred Upton (R-MI-06), and Rep. Diana DeGette (D-CO-01),
Frank Pallone (D-NJ-06), Joe Pitts (R-PA-16) and Gene Green (D-TX-29) to
ensure that increased NIH funding is included in the draft legislation.

In addition to the 21st
Century Cures Act, several pieces of stand-alone legislation in the
House and Senate support increased NIH funding at various levels. MDA
appreciates the efforts of every lawmaker who takes action to increase
funding for medical research.

Monday, May 11, 2015

Up until a few years ago, my wife and I loved “getting
lost.” It is our term for a road trip where we

don’t know where we are going
and when we’ll be home. These adventures provided plenty of opportunities to
expand our world, try different cuisine, and learn more about our country and
its history.

Unfortunately, ‘getting lost’ is a thing of the past for us.
Trips, nowadays, have to be researched and planned ahead of time. The joy of
spontaneity is now missing.

The CostCo Connection magazine this month has a good article
called, “Going Mobile – Making Travel More Accessible for Everyone.”

I found it interesting that people who use wheelchairs or
other mobility devices spend $20 billion a year on travel. Another interesting
number is that 24% of the U.S. population is projected to have some kind of
disability by 2030.

Cruises have become popular for those of us disabled because
cruise lines have embraced this market. Currently, 14% of the disabled population
has taken a cruise. The percent is much higher than the general population.

Unfortunately, a large sector of the hotel industry doesn't
have the message yet. More than 10 million people with mobility challenges stay
in hotels each year. The number of rooms available and services offered are still
behind the times. One problem mentioned is that each traveler has different
needs.

Below are some links that will be of help to you should you
be planning a cruise or trip. The first one is one of the best I have found.

Wednesday, May 6, 2015

I was reading the KDA Forum this afternoon and ran across
this article in GIZMODO about CRISPR. It appears the possibilities are almost endless
in regards to what you can use this for in the area of editing genomes. When I say endless, I mean finding a cure for Kennedy's Disease (SBMA).

Excerpts from the article are shown below. Click on the title below to read the entire article.

“CRISPR, a new genome editing tool, could transform the
field of biology—and a recent study on genetically-engineered human embryos has converted this promise into media hype.
But scientists have been tinkering with genomes for decades. Why is CRISPR
suddenly such a big deal?

The short answer is
that CRISPR allows scientists to edit genomes with unprecedented precision,
efficiency, and flexibility. The past few years have seen a flurry of “firsts”
with CRISPR, from creating monkeys with targeted mutations to preventing
HIV infection in human cells. Earlier this month, Chinese scientists
announced they applied the technique to nonviable human embryos, hinting at
CRISPR’s potential to cure any genetic disease. And yes, it might even lead to
designer babies. (Though, as the results of that study show, it’s still far
from ready for the doctor’s office.)

In short, CRISPR is
far better than older techniques for gene splicing and editing. ..."

Then, later in the article it mentioned the snipping of DNA sequences and the light bulb clicked on:

"It is a more precise way of editing the genome...

As this point, you
can start connecting the dots: Cas9 is an enzyme that snips DNA, and CRISPR is
a collection of DNA sequences that tells Cas9 exactly where to snip. All
biologists have to do is feed Cas9 the right sequence, called a guide RNA, and
boom, you can cut and paste bits of DNA sequence into the genome wherever you
want.”

This caught my attention near the end of the article. “… with CRISPR/Cas9, it’s theoretically possible to modify
the genomes of any animal under the sun. That includes humans. CRISPR could one
day hold the cure to any number of genetic diseases, but of course human
genetic manipulation is ethically fraught and still far from becoming routine.”

Emerson said, "Life is a journey, not a destination."

Learning to live with Kennedy's Disease is my journey. It's not easy ... but its the only game in town.

This journey has no end-state or a final destination where I can say, "I finally made it!" It is, in fact, a long arduous journey of self-discovery.

"Life is a succession of lessons that must be lived to be understood." I have used the analogy that learning to live with Kennedy's Disease is like trying to cross a stream without getting wet. The only way is by using the stepping stones provided (my chosen life's path). Each step is a "life experience" and I must come to terms with that experience (regain my balance) before being able to take the next step. It is a slow and often challenging journey, but I am finding it very fulfilling.

"Nothing comes into experience uninvited." If I am to learn how to live with this disease I must be open (receptive) to both the good and the bad that accompanies these life experiences.

"Acceptance" is what I am working on today. For without it, I will never be able to take the next step.

__________________________________________

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DisclaimerThe views and opinions expressed on this blog are those strictly of the author. Information provided should not be considered medical advice nor the advice of a trained medical professional or physical therapist. The author has made a reasonable effort to ensure that all information provided is accurate, but as with any document, errors might occur. It is entirely the responsibility of the reader to determine the validity of any information provided. Any decisions made based upon the information provided are entirely the reader's responsibility. The author and the Kennedy's Disease Association do not accept any liability for any direct, indirect, special or consequential damages, or damages of any kind resulting from any cause through the use of any information obtained either directly or indirectly from this blog.

Learn more about Kennedy's Disease (SBMA)

Spinal Bulbar Muscular Atrophy (a.k.a. Kennedy's Disease) is an X-linked, adult onset, progressive muscle disorder.Because of its similarities to ALS, it is often initially misdiagnosed. Kennedy’s Disease does not show up until later in life (normally mid-20s to early 40s) and it gradually erodes your strength by killing off the muscles and motor neurons in your body.Doctors classify it as rare disorder and estimate that 1-in-40,000 men have it. Women with the defective gene are carriers.There is no treatment or cure for this disorder.If you want to learn more about Spinal Bulbar Muscular Atrophy, go to http://www.kennedysdisease.org. Or, Visit the KDA on Facebook

The Kennedy's Disease Association (KDA) is a 100% volunteer 501(c)3 tax-exempt California incorporated non-profit. 90¢ of every dollar donated goes to funding research for a treatment/cure and education. To help us find a cure, please consider making a donation for Kennedy's Disease research (http://www.kennedysdisease.org/find-cure).